Linked Data
ClinVar Variation Id:
1498411
dbSNP Id:
rs762734034
ExAC:
6:42937419 G / A
gnomAD v2:
6-42937419-G-A
gnomAD v3:
6-42969681-G-A
gnomAD v4:
6-42969681-G-A
COSMIC:
COSM2149309
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42969681G>A , CM000668.2:g.42969681G>A | GRCh38 |
| NC_000006.11:g.42937419G>A , CM000668.1:g.42937419G>A | GRCh37 |
| NC_000006.10:g.43045397G>A | NCBI36 |
| NG_008370.1:g.14563C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1354C>T MANE Select | ENSP00000303511.8:p.Arg452Cys | |
| ENST00000244546.4:c.1354C>T | ENSP00000244546.4:p.Arg452Cys | |
| ENST00000304611.12:c.1354C>T | ENSP00000303511.8:p.Arg452Cys | |
| NM_000287.3:c.1354C>T | NP_000278.3:p.Arg452Cys | |
| NM_001316313.1:c.1090C>T | NP_001303242.1:p.Arg364Cys | |
| NR_133009.1:n.1447C>T | ||
| XM_011514661.1:c.1270C>T | XP_011512963.1:p.Arg424Cys | |
| XR_926246.1:n.1447C>T | ||
| XM_011514661.2:c.1270C>T | XP_011512963.1:p.Arg424Cys | |
| XR_001743466.2:n.2428C>T | ||
| NM_000287.4:c.1354C>T MANE Select | NP_000278.3:p.Arg452Cys | |
| NM_001316313.2:c.1090C>T | NP_001303242.1:p.Arg364Cys | |
| NR_133009.2:n.1385C>T |